Keywords Juvenile amyotrophic lateral sclerosis, jALS, ALS, degenerative motor neuron disease, distal hereditary motor neuropathy (dHMN), distal SMA, Brown-Vialetto-Van Laere (BVVL) syndrome, Madras Motor Neuron Disease (MMND), hereditary spastic paraparesis…
Keywords Arthrogryposis, fetal akinesia sequence, multiple congenital contractures, myasthenia syndromes Introduction Arthrogryposis is a term used to describe the presence of multiple contractures of joints in more than one…
Keywords Hypotonia, clinical assessment, distinguishing features, anatomic loci Introduction Neonatal hypotonia, manifested by the clinical appearance of a “floppy infant” ( Figure 6.1 ) and by diminished resistance to…
Keywords Hypotonia, clinical assessment, distinguishing features, anatomic loci Introduction Neonatal hypotonia, manifested by the clinical appearance of a “floppy infant” ( Figure 6.1 ) and by diminished resistance to…
Keywords Electromyography, pediatrics, neural conduction, infant, neonate Introduction This chapter discusses the use and techniques of pediatric electromyography (EMG). In a comprehensive text on neuromuscular disease such as this,…
Keywords Genetic testing, genetic, genomic, mutation, chromosome microarray, DNA sequencing, whole exome sequencing, muscular dystrophy, Duchenne muscular dystrophy Introduction Many neuromuscular disorders in children are single gene disorders, and…
Keywords Historical perspectives on pediatric neuromuscular disease, DNA diagnostics, EMG, muscle biopsy, diagnostic tests, clinical classification of pediatric neuromuscular disease, clinical approach, presenting complaints Introduction The role of the…
Abstract Electroencephalography (EEG) or amplitude-integrated EEG (aEEG) provides important information on brain function in newborns. It can detect subclinical seizures and assess the effect of antiepileptic medication, and the background…
Abstract Congenital heart disease (CHD) is the most common malformation in humans. The psychomotor development of children with CHD has been shown to be delayed in many aspects throughout adulthood….
Abstract Neonatal hypotonia can be caused by diseases that impair both the central and the peripheral nervous systems; it represents a diagnostic challenge to both the experienced neonatologist and pediatric…
